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        "NM_006415.4:c.992C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_006406.1:p.Ser331Tyr",
        "hgvsWellDefined": "NP_006406.1:p.Ser331Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS667448",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000262554.7:c.992C>A"
          },
          "RefSeq": {
            "hgvs": "NM_006415.4:c.992C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000262554.2:p.Ser331Tyr"
          },
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            "hgvs": "NP_006406.1:p.Ser331Tyr"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826622505",
      "coordinates": [
        {
          "allele": "A",
          "end": 1035,
          "referenceAllele": "C",
          "start": 1034
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011277",
      "geneNCBI_id": 10558,
      "geneSymbol": "SPTLC1",
      "hgvs": [
        "NM_001281303.2:c.992C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001268232.1:p.Ser331Tyr",
        "hgvsWellDefined": "NP_001268232.1:p.Ser331Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS681629"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828287550",
      "coordinates": [
        {
          "allele": "A",
          "end": 1168,
          "referenceAllele": "C",
          "start": 1167
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011277",
      "geneNCBI_id": 10558,
      "geneSymbol": "SPTLC1",
      "hgvs": [
        "NM_001368272.1:c.626C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355201.1:p.Ser209Tyr",
        "hgvsWellDefined": "NP_001355201.1:p.Ser209Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691411"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828287717",
      "coordinates": [
        {
          "allele": "A",
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          "referenceAllele": "C",
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      ],
      "gene": "http://reg.genome.network/gene/GN011277",
      "geneNCBI_id": 10558,
      "geneSymbol": "SPTLC1",
      "hgvs": [
        "NM_001368273.1:c.527C>A"
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        "hgvs": "NP_001355202.1:p.Ser176Tyr",
        "hgvsWellDefined": "NP_001355202.1:p.Ser176Tyr"
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      "referenceSequence": "http://reg.genome.network/refseq/RS691412"
    }
  ],
  "type": "nucleotide"
}